Research Article
Extensive In Silico Analysis of ATL1 Gene : Discovered Five Mutations That May Cause Hereditary Spastic Paraplegia Type 3A
Table 6
Shows variant consequences, transcripts, and regulatory features by VEP tool.
| | rs variations | Consequence | Gene SYMBOL | Feature | Protein position | Amino acids |
| | rs746927118 | Missense variant | ATL1 | ENST00000358385.10 | 67 | V/F | | rs746927118 | Missense variant | ATL1 | ENST00000441560.6 | 67 | V/F | | rs746927118 | Downstream gene variant | ATL1 | ENST00000553509.1 | — | — | | rs746927118 | Upstream gene variant | ATL1 | ENST00000553746.1 | — | — | | rs746927118 | Intron variant | ATL1 | ENST00000554886.1 | — | — | | rs746927118 | Missense variant | ATL1 | ENST00000555960.5 | 67 | V/F | | rs746927118 | Downstream gene variant | ATL1 | ENST00000556478.2 | — | — | | rs746927118 | 5 prime UTR variant | ATL1 | ENST00000557735.1 | — | — | | rs979765709 | Missense variant | ATL1 | ENST00000358385.10 | 120 | T/I | | rs979765709 | Missense variant | ATL1 | ENST00000441560.6 | 120 | T/I | | rs979765709 | Downstream gene variant | ATL1 | ENST00000553509.1 | — | — | | rs979765709 | Noncoding transcript exon variant | ATL1 | ENST00000553746.1 | — | — | | rs979765709 | 5 prime UTR variant | ATL1 | ENST00000554886.1 | — | — | | rs979765709 | Downstream gene variant | ATL1 | ENST00000555960.5 | — | — | | rs979765709 | Downstream gene variant | ATL1 | ENST00000556478.2 | — | — | | rs979765709 | Missense variant | ATL1 | ENST00000557735.1 | 37 | T/I | | rs119476049 | Missense variant | ATL1 | ENST00000358385.10 | 217 | R/Q | | rs119476049 | Missense variant | ATL1 | ENST00000441560.6 | 217 | R/Q | | rs119476049 | Missense variant | ATL1 | ENST00000554886.1 | 73 | R/Q | | rs119476049 | Upstream gene variant | ATL1 | ENST00000555266.1 | — | — | | rs864622269 | Missense variant | ATL1 | ENST00000358385.10 | 495 | R/W | | rs864622269 | Missense variant | ATL1 | ENST00000441560.6 | 495 | R/W | | rs864622269 | Downstream gene variant | ATL1 | ENST00000555266.1 | — | — | | rs864622269 | Downstream gene variant | SAV1 | ENST00000555720.5 | — | — | | rs864622269 | Missense variant, NMD transcript variant | ATL1 | ENST00000556067.1 | 77 | R/W | | rs1242753115 | Missense variant | ATL1 | ENST00000358385.10 | 504 | G/E | | rs1242753115 | Missense variant | ATL1 | ENST00000441560.6 | 504 | G/E | | rs1242753115 | Downstream gene variant | ATL1 | ENST00000555266.1 | — | — | | rs1242753115 | Downstream gene variant | SAV1 | ENST00000555720.5 | — | — | | rs1242753115 | Missense variant, NMD transcript variant | ATL1 | ENST00000556067.1 | 86 | G/E |
|
|
